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PG Ekert et al.
CURRENT OPINION IN CELL BIOLOGY (2005)
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
P Amati-Bonneau et al.
ANNALS OF NEUROLOGY (2005)
Release of OPA1 during apoptosis participates in the rapid and complete release of cytochrome c and subsequent mitochondrial fragmentation
D Arnoult et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
A Niemann et al.
JOURNAL OF CELL BIOLOGY (2005)
The mitochondrial protein MTP18 contributes to mitochondrial fission in mammalian cells
D Tondera et al.
JOURNAL OF CELL SCIENCE (2005)
Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization
M Neuspiel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
S Pich et al.
HUMAN MOLECULAR GENETICS (2005)
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain
S Bette et al.
ACTA NEUROPATHOLOGICA (2005)
Genetics of Charcot-Marie-Tooth disease type 4A:: mutations, inheritance, phenotypic variability, and founder effect
R Claramunt et al.
JOURNAL OF MEDICAL GENETICS (2005)
The diagnosis of mitochondrial muscle disease
RW Taylor et al.
NEUROMUSCULAR DISORDERS (2004)
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract -: art. no. e110
P Reynier et al.
JOURNAL OF MEDICAL GENETICS (2004)
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
C Paisán-Ruíz et al.
NEURON (2004)
OPA1 requires mitofusin 1 to promote mitochondrial fusion
S Cipolat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
F Ferreirinha et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
S Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2004)
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina
UEA Pesch et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
R Lodi et al.
ANNALS OF NEUROLOGY (2004)
Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer
S Aijaz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner et al.
NATURE GENETICS (2004)
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
P Amati-Bonneau et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2003)
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
R Del Bo et al.
NEUROLOGY (2003)
Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion
Y Eura et al.
JOURNAL OF BIOCHEMISTRY (2003)
Site-speciflic somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
Y Nishigaki et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
Mitochondrial membrane remodelling regulated by a conserved rhomboid protease
GA McQuibban et al.
NATURE (2003)
Composition and dynamics of human mitochondrial nucleoids
N Garrido et al.
MOLECULAR BIOLOGY OF THE CELL (2003)
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
A Olichon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
HC Chen et al.
JOURNAL OF CELL BIOLOGY (2003)
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
PF Chinnery et al.
LANCET (2002)
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
N. J. Marchbank et al.
JOURNAL OF MEDICAL GENETICS (2002)
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
A Olichon et al.
FEBS LETTERS (2002)
A distinct pathway remodels mitochondrial cristae and mobilizes cytochrome c during apoptosis
L Scorrano et al.
DEVELOPMENTAL CELL (2002)
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
RV Baxter et al.
NATURE GENETICS (2002)
Leber hereditary optic neuropathy
PYW Man et al.
JOURNAL OF MEDICAL GENETICS (2002)
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome):: Identification of the OPA3 gene and its founder mutation in Iraqi Jews
Y Anikster et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
C Delettre et al.
NATURE GENETICS (2000)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander et al.
NATURE GENETICS (2000)
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
JC Engert et al.
NATURE GENETICS (2000)
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